Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.I239fs
Back to variants list

CACNA1A

NM_001127222.2:p.I239fs

Associated Papers

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.

Li XL et al.

Frontiers in Molecular Neuroscience, 2022

35600082 (PubMed )
Supplement: Table_1.DOCX

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Lee CG et al.

Plos One, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."